Sara E. Mole

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 54 Citations 10,673 182 World Ranking 2880 National Ranking 349

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

L M Mulligan;J B Kwok;C S Healey;M J Elsdon.
Nature (1993)

2326 Citations

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith;Katherine R. Smith;John Damiano;Silvana Franceschetti;Stirling Carpenter.
American Journal of Human Genetics (2012)

435 Citations

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Susanna Ranta;Yonghui Zhang;Barbara Ross;Liina Lonka.
Nature Genetics (1999)

346 Citations

The neuronal ceroid lipofuscinoses : batten disease

Sara E. Mole;Matti Haltia.
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition) (2015)

333 Citations

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Sara E. Mole;Ruth E. Williams;Hans H. Goebel.
Neurogenetics (2005)

322 Citations

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Maria Kousi;Anna-Elina Lehesjoki;Sara E. Mole.
Human Mutation (2012)

307 Citations

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková;Viktor Stránecký;Hana Hartmannová;Anna Přistoupilová.
American Journal of Human Genetics (2011)

268 Citations

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Jose Bras;Alain Verloes;Susanne A. Schneider;Sara E. Mole.
Human Molecular Genetics (2012)

256 Citations

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

Sara E. Mole;Susan L. Cotman.
Biochimica et Biophysica Acta (2015)

251 Citations

Spectrum of Mutations in the Batten Disease Gene, CLN3

Patricia B. Munroe;Hannah M. Mitchison;Angela M. O'Rawe;John W. Anderson.
American Journal of Human Genetics (1997)

224 Citations

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